title: [Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity].
abstract: We report a case of holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity in the lymphocytes of an 8 year-old girl with clinical toxicity without the classic dermatological involvement. The identification of three nucleotide changes in the holocarboxylase synthetase (HLCS) gene, only one of them described as a pathogenic mutation could be related to a slight variant of the disease that would explain the unusual presentation beyond the age of infant. Treatment with biotin at 40 mg/day with protein controlled diet allows normal physical growth and psychomotor development for their age.
authors.affiliation: Unidad de Nutrición y Metabolopatías, Hospital La Fe, Valencia, España. Electronic address: vitoria_isi@gva.es.
authors.forename: I
authors.initials: I
authors.lastname: Vitoria
authors.affiliation: Laboratorio Metabolopatías, Hospital La Fe, Valencia, España.
authors.forename: D
authors.initials: D
authors.lastname: Rausell
authors.affiliation: Unidad de Metabolopatías, Centro de Bioquímica y Genética, Hospital Universitario Virgen de la Arrixaca, Murcia, España.
authors.forename: I
authors.initials: I
authors.lastname: González
authors.affiliation: Centro de Diagnóstico de Enfermedades Moleculares, Centros de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad Autónoma de Madrid, Madrid, España.
authors.forename: C
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.affiliation: Unidad de Nutrición y Metabolopatías, Hospital La Fe, Valencia, España.
authors.forename: J
authors.initials: J
authors.lastname: Dalmau
mesh_terms: D000367:Age Factors; D002648:Child; D005260:Female; D028922:Holocarboxylase Synthetase Deficiency / Q000175:diagnosis* / Q000201:enzymology*; D006801:Humans; D011766:Pyruvate Carboxylase / Q000378:metabolism*
chemical_list: D011766:Pyruvate Carboxylase
keywords: Biotin; Biotina; Deficiencia múltiple de carboxilasas; Holocarboxilasa sintetasa; Holocarboxylase synthetase; Multiple carboxylase deficiency